abnormal chromosome morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information (Mammalian Phenotype Ontology, MP_0003702)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003702
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51 gene mutations causing the abnormal chromosome morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
ARHGAP1 Rho GTPase activating protein 1
ATM ATM serine/threonine kinase
BRCA2 breast cancer 2, early onset
BUB3 BUB3 mitotic checkpoint protein
CDC20 cell division cycle 20
CDX2 caudal type homeobox 2
CENPA centromere protein A
CENPC centromere protein C
CTC1 CTS telomere maintenance complex component 1
DCLRE1A DNA cross-link repair 1A
DIDO1 death inducer-obliterator 1
DKC1 dyskeratosis congenita 1, dyskerin
DNA2 DNA replication helicase/nuclease 2
DOT1L DOT1-like histone H3K79 methyltransferase
ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
GADD45A growth arrest and DNA-damage-inducible, alpha
H3F3A H3 histone, family 3A
HELLS helicase, lymphoid-specific
HUS1 HUS1 checkpoint homolog (S. pombe)
KAT6A K(lysine) acetyltransferase 6A
KAT8 K(lysine) acetyltransferase 8
KIF22 kinesin family member 22
MCPH1 microcephalin 1
PDS5B PDS5 cohesin associated factor B
PIF1 PIF1 5'-to-3' DNA helicase
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
POT1 protection of telomeres 1
RAD21L1 RAD21-like 1 (S. pombe)
RAD54L RAD54-like (S. cerevisiae)
RB1 retinoblastoma 1
RECQL RecQ helicase-like
RTEL1 regulator of telomere elongation helicase 1
SIRT1 sirtuin 1
SIRT2 sirtuin 2
SLX4 SLX4 structure-specific endonuclease subunit
STAG1 stromal antigen 1
SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae)
TDP2 tyrosyl-DNA phosphodiesterase 2
TERC telomerase RNA component
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TGFBI transforming growth factor, beta-induced, 68kDa
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP53 tumor protein p53
TYR tyrosinase